Varaico: Literature-Extracted Genetic Variants

Gene:PDZD8
Variant:p.P183L

PDZD8

74 papers

Pfam Domains

PDZD8_Naa 93–291UCSCPDZD8 N-terminal TULIPs domain
PDZ_6aa 395–445UCSCPDZ domain
C1_1aa 841–890UCSCPhorbol esters/diacylglycerol binding domain (C1 domain)

Gene Aliases

HGNC Name

PDZ domain containing 8

HGNC Previous Symbol

PDZK8

Papers
RefSeq ID
Protein change
DNA change
Selected Variant
1 paper
NM_173791.5
p.P183L
c.548C>T
Surrounding Variants
2 papers
NM_173791.5
p.E197Q
c.589G>C
1 paper
NM_173791.5
p.I160T
c.479T>C
1 paper
NM_173791.5
p.K158R
c.473A>G
1 paper
NM_173791.5
p.T153A
c.457A>G
1 paper
NM_173791.5
p.E152D
c.456G>T
1 paper
NM_173791.5
p.E152D
c.456G>C
1 paper
NM_173791.5
p.T234M
c.701C>T
1 paper
NM_173791.5
p.T115A
c.343A>G
1 paper
NM_173791.5
p.S257S
c.771C>G
1 paper
NM_173791.5
p.E260G
c.779A>G
1 paper
NM_173791.5
p.L105P
c.314T>C
1 paper
NM_173791.5
p.I102M
c.306C>G
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